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Center for Genomic Medicine 2021 Symposium

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Center for Genomic Medicine


Community Accomplishments

Celebrating the good things from 2020!

Collin Anderson, PhD

Gene therapy in a rat model of Christianson syndrome, an epileptic encephalopathy with ataxia

Cecile Avery, BS

Multi-omic approaches identify alternatively spliced genes in Juvenile Idiopathic Arthritis cases in a multiplex pedigree

Jonathan Belyeu, BS

Analysis of parent-of-origin and parental age effects on the rate of de novo structural variation in 2363 ASD cases and 2372 unaffected controls

Danielle Bonser, BS

Next Generation Genetic Sequencing in the NICU: Improving Healthcare Through Precision Medicine

Lisa A. Cannon-Albright, PhD

Identification of a novel cancer predisposition variant associated with risk of CMM

Hilary Coon, PhD

Ethics and Genetic Testing for Suicide Risk

Bing-Jian Feng, PhD

Considerations in assessing germline variant pathogenicity using co-segregation analysis

Julie Feusier, PhD

Transcriptomic spectra associate with clinical prognostic and predictive markers in CLL

Catherine M. Gavile, PhD

Mutations in the mechanosensory gene PIEZO1 are associated with familial finger interphalangeal joint osteoarthritis

Nathan Harris, PhD

Pleiotropic cancers in high-risk Chronic Lymphocytic Leukemia families

Scott Henslee, MS

Next-Generation Sequencing Leads to the Detection of Low-Frequency Variants in Lymphatic Malformations

Kevin Hope, PhD

An in vivo repurposing screen identifies novel therapeutic candidates for NGLY1 deficiency

Xiaomeng Huang, PhD

Precision oncology on Pediatric Brian Tumor - a case report

Mick Jurynec, PhD

Discovery and functional analysis of osteoarthritis susceptibility genes using families from a large population-based cohort

Madison Kieffer, BS

The Association Between Family History and Recurrence or Need for Surgery After Acute Diverticulitis

Stephanie Kravitz, BA

Identifying Monoallelic Expression in Diverse Tissues and Cell Types: Implications for Monogenic Brain Disorders

Kaitlyn Mason, BS

Assessing Medical Students' Knowledge and Application of GINA in the Clinical Setting

Deborah Neklason, PhD and Seyoun Byun, MS

Identification of shared genomic segments in hereditary small intestine neuroendocrine tumor cases

Kristi L. Russell, BS

TP73 variants associate with amyotrophic lateral sclerosis pathogenesis

Cody Steely, PhD

Analysis of Disease-associated STR loci in Diverse Populations

Dana Talsness, PhD

A Drosophila genetic screen for modifiers of NGLY1 deficiency identifies several potential enzymatic substrates of NGLY1 deglycosylation

Szabolcs Tarapcsak, PhD

Single-cell RNA sequencing in Hirschsprung’s Disease tissues reveals lack of neuronal differentiation in the aganglionic colon segment

Jainy Thomas, PhD

An integrated pipeline for an end-to-end analysis of mobile element insertions in whole-genome resequencing data

Matt Velinder, PhD

ped_draw: pedigree drawing with ease

Amelia Wallace, PhD, MPH

An evaluation of somatic mosaicism in the human placenta